PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000380737	[[26149006, 26149342], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26230196]]	[[26149335, 26149342], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227929]]
ENST00000520329	[[26149043, 26149342], [26151181, 26151256], [26191001, 26191086], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797]]	[[26149335, 26149342], [26151181, 26151256], [26191001, 26191021]]
ENST00000524169	[[26149054, 26149169], [26218616, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227840]]	[[26220225, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227840]]
ENST00000518397	[[26149129, 26149342], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26216422, 26216548], [26217684, 26217797], [26218489, 26218528]]	[[26149335, 26149342], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26216422, 26216475]]
ENST00000522535	[[26149350, 26149523], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218517]]	[[26218507, 26218517]]
ENST00000523925	[[26150627, 26150670], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218523]]	[[26218507, 26218523]]
ENST00000524099	[[26150721, 26150882], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217753]]	None
ENST00000519636	[[26150731, 26150882], [26151181, 26151256], [26196405, 26196503], [26197418, 26197489], [26211983, 26212149], [26217684, 26217698]]	None
ENST00000315985	[[26150731, 26150799], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26228402]]	[[26150762, 26150799], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227929]]
ENST00000521557	[[26150998, 26151087], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218549]]	[[26218507, 26218549]]
ENST00000519439	[[26151087, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218601]]	None
ENST00000521484	[[26151105, 26151256], [26196405, 26196503], [26197418, 26197489], [26211983, 26212149], [26217684, 26217754]]	None
ENST00000523964	[[26156090, 26156124], [26191001, 26191086], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218560]]	None
ENST00000520438	[[26197434, 26197489], [26211983, 26212149], [26216427, 26216548], [26217684, 26217751]]	None
ENST00000518215	[[26211934, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227879]]	None
ENST00000518254	[[26149043, 26149342], [26151181, 26151376], [26196405, 26196503], [26211983, 26212146]]	[[26149335, 26149342], [26151181, 26151330]]
ENST00000522150	[[26149628, 26149957], [26151181, 26151256], [26196405, 26196503], [26197418, 26197489]]	None
ENST00000523473	[[26149632, 26149957], [26151181, 26151256], [26191001, 26191086], [26196405, 26196503], [26197418, 26197489]]	None
ENST00000521095	[[26149634, 26149957], [26151181, 26151256], [26196405, 26196503], [26211983, 26212066]]	None
ENST00000522482	[[26150732, 26150882], [26151181, 26151256], [26196405, 26196503], [26208114, 26208197], [26211983, 26212153]]	None
ENST00000518890	[[26218115, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227907]]	None
ENST00000517754	[[26218605, 26218667], [26220199, 26221406], [26223830, 26223922], [26227649, 26228645]]	None
ENST00000518208	[[26222613, 26223922], [26227649, 26227830]]	None
NM_002717	[[26149006, 26149342], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26230196]]	[[26149335, 26149342], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227929]]
NM_001177591	[[26150731, 26150799], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26230196]]	[[26150762, 26150799], [26151181, 26151256], [26196405, 26196503], [26211983, 26212149], [26217684, 26217797], [26218489, 26218667], [26220199, 26220364], [26221236, 26221406], [26223830, 26223922], [26227649, 26227929]]

Promoter

Chrom	Start	End	Description
chr8	26149011	26149061	CAGE_peak_1_at_PPP2R2A_5end
chr8	26149078	26149101	CAGE_peak_2_at_PPP2R2A_5end
chr8	26149136	26149147	CAGE_peak_3_at_PPP2R2A_5end
chr8	26149216	26149223	CAGE_peak_6_at_PPP2R2A_5end
chr8	26149274	26149283	CAGE_peak_4_at_PPP2R2A_5end
chr8	26150726	26150749	CAGE_peak_8_at_PPP2R2A_5end
chr8	26151187	26151210	CAGE_peak_5_at_PPP2R2A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I026335	26335001	26335200	0.2	[{'connected_gene': 'PPP2R2A', 'score': 11.21}, {'connected_gene': 'SDAD1P1', 'score': 10.97}, {'connected_gene': 'BNIP3L', 'score': 10.97}, {'connected_gene': 'PNMA2', 'score': 10.0}, {'connected_gene': 'DPYSL2', 'score': 10.0}, {'connected_gene': 'GC08M026286', 'score': 0.39}]
chr8	GH08I026290	26290563	26297420	2.26	[{'connected_gene': 'PPP2R2A', 'score': 550.77}, {'connected_gene': 'SDAD1P1', 'score': 14.3}, {'connected_gene': 'GC08M026286', 'score': 0.23}]
chr8	GH08I026313	26313401	26314800	0.72	[{'connected_gene': 'PPP2R2A', 'score': 11.72}, {'connected_gene': 'SDAD1P1', 'score': 10.51}, {'connected_gene': 'GC08M026286', 'score': 0.29}]
chr8	GH08I026370	26370596	26370810	0.4	[{'connected_gene': 'PPP2R2A', 'score': 10.61}, {'connected_gene': 'PNMA2', 'score': 10.33}, {'connected_gene': 'DPYSL2', 'score': 10.33}, {'connected_gene': 'BNIP3L', 'score': 0.39}, {'connected_gene': 'GC08M026286', 'score': 0.34}]
chr8	GH08I026203	26203915	26205303	1.05	[{'connected_gene': 'PPP2R2A', 'score': 11.04}, {'connected_gene': 'LOC105379336', 'score': 0.77}, {'connected_gene': 'RNA5SP258', 'score': 0.2}]
chr8	GH08I026195	26195972	26198187	0.31	[{'connected_gene': 'PPP2R2A', 'score': 10.72}, {'connected_gene': 'LOC105379336', 'score': 0.44}, {'connected_gene': 'RNA5SP258', 'score': 0.21}]
chr8	GH08I026192	26192211	26193789	0.49	[{'connected_gene': 'PPP2R2A', 'score': 10.72}, {'connected_gene': 'LOC105379336', 'score': 0.39}, {'connected_gene': 'RNA5SP258', 'score': 0.22}]
chr8	GH08I026228	26228530	26229478	0.43	[{'connected_gene': 'PPP2R2A', 'score': 11.25}, {'connected_gene': 'LOC105379336', 'score': 0.34}, {'connected_gene': 'LOC100129404', 'score': 0.31}]
chr8	GH08I026208	26208994	26210808	0.43	[{'connected_gene': 'PPP2R2A', 'score': 11.05}, {'connected_gene': 'LOC105379336', 'score': 0.77}, {'connected_gene': 'LOC100129404', 'score': 0.25}]
chr8	GH08I026168	26168945	26169805	0.54	[{'connected_gene': 'PPP2R2A', 'score': 10.57}, {'connected_gene': 'RNA5SP258', 'score': 0.29}, {'connected_gene': 'LOC105379336', 'score': 0.28}]
chr8	GH08I026262	26262845	26262994	0.63	[{'connected_gene': 'PPP2R2A', 'score': 12.19}, {'connected_gene': 'LOC100129404', 'score': 0.44}]
chr8	GH08I026264	26264397	26268085	1.5	[{'connected_gene': 'PPP2R2A', 'score': 13.89}, {'connected_gene': 'LOC100129404', 'score': 0.44}]
chr8	GH08I026257	26257547	26259808	0.86	[{'connected_gene': 'PPP2R2A', 'score': 12.17}, {'connected_gene': 'LOC100129404', 'score': 0.77}]
chr8	GH08I026307	26307985	26308134	0.88	[{'connected_gene': 'PPP2R2A', 'score': 0.37}, {'connected_gene': 'GC08M026286', 'score': 0.26}]
chr8	GH08I026351	26351480	26354127	0.59	[{'connected_gene': 'SDAD1P1', 'score': 26.65}, {'connected_gene': 'GC08M026286', 'score': 0.77}, {'connected_gene': 'BNIP3L', 'score': 0.29}, {'connected_gene': 'PPP2R2A', 'score': 0.21}]
chr8	GH08I026356	26356265	26356414	0.2	[{'connected_gene': 'SDAD1P1', 'score': 10.92}, {'connected_gene': 'BNIP3L', 'score': 10.92}, {'connected_gene': 'PNMA2', 'score': 10.43}, {'connected_gene': 'DPYSL2', 'score': 10.43}, {'connected_gene': 'GC08M026286', 'score': 0.44}, {'connected_gene': 'PPP2R2A', 'score': 0.21}]
chr8	GH08I026329	26329121	26332246	1.29	[{'connected_gene': 'SDAD1P1', 'score': 26.86}, {'connected_gene': 'PPP2R2A', 'score': 11.34}, {'connected_gene': 'ENSG00000253476', 'score': 11.23}, {'connected_gene': 'BNIP3L', 'score': 10.95}, {'connected_gene': 'PNMA2', 'score': 10.0}, {'connected_gene': 'DPYSL2', 'score': 10.0}, {'connected_gene': 'GC08M026286', 'score': 0.37}]
chr8	GH08I026374	26374000	26374765	1.27	[{'connected_gene': 'SDAD1P1', 'score': 31.89}, {'connected_gene': 'PPP2R2A', 'score': 10.22}, {'connected_gene': 'BNIP3L', 'score': 0.44}, {'connected_gene': 'GC08M026286', 'score': 0.31}]
chr8	GH08I026278	26278768	26279561	0.46	[{'connected_gene': 'SDAD1P1', 'score': 6.91}, {'connected_gene': 'PPP2R2A', 'score': 0.39}, {'connected_gene': 'LOC100129404', 'score': 0.34}]
chr8	GH08I026322	26322601	26323000	0.66	[{'connected_gene': 'SDAD1P1', 'score': 24.2}, {'connected_gene': 'GC08M026286', 'score': 0.31}, {'connected_gene': 'PPP2R2A', 'score': 0.29}]
chr8	GH08I026315	26315001	26315400	0.31	[{'connected_gene': 'SDAD1P1', 'score': 9.69}, {'connected_gene': 'PPP2R2A', 'score': 0.34}, {'connected_gene': 'GC08M026286', 'score': 0.29}]
chr8	GH08I026302	26302894	26306399	1.21	[{'connected_gene': 'SDAD1P1', 'score': 10.49}, {'connected_gene': 'PPP2R2A', 'score': 0.39}, {'connected_gene': 'GC08M026286', 'score': 0.26}]
chr8	GH08I026317	26317401	26318634	0.66	[{'connected_gene': 'SDAD1P1', 'score': 24.18}, {'connected_gene': 'PPP2R2A', 'score': 0.31}, {'connected_gene': 'GC08M026286', 'score': 0.29}]
chr8	GH08I026607	26607202	26618400	1.69	[{'connected_gene': 'PNMA2', 'score': 7.85}, {'connected_gene': 'DPYSL2', 'score': 6.04}, {'connected_gene': 'SDAD1P1', 'score': 5.08}, {'connected_gene': 'PPP2R2A', 'score': 1.89}, {'connected_gene': 'BNIP3L', 'score': 1.74}, {'connected_gene': 'PSME2P5', 'score': 0.2}, {'connected_gene': 'GC08M026683', 'score': 0.19}]
chr8	GH08I026206	26206192	26206723	0.2	[{'connected_gene': 'LOC105379336', 'score': 550.77}, {'connected_gene': 'PPP2R2A', 'score': 11.04}, {'connected_gene': 'RNA5SP258', 'score': 0.2}]
chr8	GH08I026207	26207269	26207987	0.31	[{'connected_gene': 'LOC105379336', 'score': 550.77}, {'connected_gene': 'PPP2R2A', 'score': 11.05}, {'connected_gene': 'LOC100129404', 'score': 0.25}]
chr8	GH08I026275	26275107	26275920	0.2	[{'connected_gene': 'LOC100129404', 'score': 0.37}, {'connected_gene': 'PPP2R2A', 'score': 0.37}]
chr8	GH08I026320	26320505	26322118	1	[{'connected_gene': 'GC08M026286', 'score': 0.31}, {'connected_gene': 'PPP2R2A', 'score': 0.31}]
chr8	GH08I026326	26326392	26328154	1.18	[{'connected_gene': 'GC08M026286', 'score': 0.34}, {'connected_gene': 'PPP2R2A', 'score': 0.28}]
chr8	GH08I026323	26323401	26324200	0.83	[{'connected_gene': 'ENSG00000253476', 'score': 9.95}, {'connected_gene': 'GC08M026286', 'score': 0.34}, {'connected_gene': 'PPP2R2A', 'score': 0.29}]
chr8	GH08I026348	26348938	26351112	0.46	[{'connected_gene': 'GC08M026286', 'score': 550.77}, {'connected_gene': 'SDAD1P1', 'score': 18.65}, {'connected_gene': 'GNRH1', 'score': 10.24}, {'connected_gene': 'BNIP3L', 'score': 0.29}, {'connected_gene': 'PPP2R2A', 'score': 0.22}]